Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.A50G

VHL

2,228 papers

RefSeq Summary

This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that...

Pfam Domains

VHLaa 63–116UCSCVHL beta domain
VHLaa 63–144UCSCVHL beta domain
VHL_Caa 156–204UCSCVHL box domain

Gene Aliases

HGNC Name

von Hippel-Lindau tumor suppressor

HGNC Alias Symbol

VHL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000551.4
p.A50G
c.149C>G
Surrounding Variants
1 paper
NM_000551.4
p.A50D
c.149C>A
4 papers
NM_000551.4
p.A50V
c.149C>T
4 papers
NM_000551.4
p.A50A
c.150C>G
2 papers
NM_000551.4
p.A50A
c.150C>T
6 papers
NM_000551.4
p.A50T
c.148G>A
5 papers
NM_000551.4
p.A50P
c.148G>C
1 paper
NM_000551.4
p.A50S
c.148G>T
1 paper
NM_000551.4
p.G49G
c.147C>A
1 paper
NM_000551.4
p.G49G
c.147C>G
1 paper
NM_000551.4
p.G49G
c.147C>T
4 papers
NM_000551.4
p.E51K
c.151G>A
5 papers
NM_000551.4
p.E51Q
c.151G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."